ClinVar Miner

Variants in gene PMS2

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
278 103 1171 593 105 34 1963

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 111 29 652 408 46 0 1168
Hereditary nonpolyposis colon cancer 120 31 586 159 40 0 936
not provided 95 28 351 40 28 3 514
Lynch syndrome 105 36 196 78 37 1 422
not specified 4 0 131 218 70 31 394
Hereditary nonpolyposis colorectal cancer type 4 22 16 88 30 30 0 171
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 6 1 27 1 0 0 35
Lynch syndrome I 2 3 7 3 8 0 20
Turcot syndrome 15 2 0 0 0 0 16
Burkitt lymphoma; Lymphoma 2 0 0 0 0 0 2
Colon polyps 0 1 1 0 0 0 2
Tumor susceptibility linked to germline BAP1 mutations 1 0 1 0 0 0 2
Acute lymphoid leukemia; Glioblastoma 1 0 0 0 0 0 1
Colon cancer 1 0 0 0 0 0 1
Colorectal cancer, non-polyposis 1 0 0 0 0 0 1
Germinoma 0 0 1 0 0 0 1
Hereditary cancer 0 0 0 0 0 1 1
Low Grade Glioma 0 0 1 0 0 0 1
Ovarian Neoplasms 1 0 0 0 0 0 1
Pituitary carcinoma 0 1 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary insufficiency 1 0 0 0 0 0 1
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 51
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 155 37 676 208 44 0 1120
Ambry Genetics 93 21 489 251 35 0 888
Color 43 7 317 245 31 0 642
GeneDx 88 17 274 186 44 0 609
Integrated Genetics/Laboratory Corporation of America 16 13 162 15 17 0 223
Counsyl 10 10 85 19 13 0 137
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 58 11 31 6 28 0 134
Quest Diagnostics Nichols Institute San Juan Capistrano 19 10 67 27 6 0 128
PreventionGenetics 4 0 18 18 32 0 72
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 17 2 19 1 8 0 47
Department of Pathology and Laboratory Medicine,Sinai Health System 10 5 8 6 14 0 43
Illumina Clinical Services Laboratory,Illumina 0 3 19 19 0 0 41
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 6 2 30 0 39
University of Washington Department of Laboratory Medicine,University of Washington 5 2 21 6 4 0 38
Mendelics 1 2 33 1 0 0 37
Fulgent Genetics 6 1 27 1 0 0 35
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 7 0 1 5 20 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 7 0 4 3 18 0 32
ITMI 0 0 0 0 0 31 31
True Health Diagnostics 3 0 5 17 5 0 30
GeneKor MSA 4 1 19 3 0 0 27
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 13 0 12 0 25
OMIM 19 0 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 2 15 0 18
Pathway Genomics 1 2 5 2 7 0 17
Genetic Services Laboratory, University of Chicago 1 0 4 8 3 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 12 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 3 10 0 14
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 6 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 3 0 11
CSER_CC_NCGL; University of Washington Medical Center 4 2 4 0 0 0 10
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 7 2 0 0 0 0 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 8 0 0 0 9
Vantari Genetics 1 0 0 3 2 0 6
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 1 3 0 0 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 2 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology 2 0 0 0 0 0 2
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 1 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Gharavi Laboratory,Columbia University 1 1 0 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
Genetic Laboratory,Instituto Nacional de Cancer 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 1 0 0 0 0 0 1

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